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Case Report/Case Series |

Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family With Full CAG Repeat Expansions of ATXN2

Sirinan Tazen, MD1; Karla Figueroa, MS2; Justin Y. Kwan, MD3; Jill Goldman, MS, MPhil1; Ann Hunt, DO4; Jacinda Sampson, MD, PhD1; Laurie Gutmann, MD5; Stefan M. Pulst, MD2; Hiroshi Mitsumoto, MD, DSc1; Sheng-Han Kuo, MD1
[+] Author Affiliations
1Department of Neurology, Columbia University, New York, New York
2Department of Neurology, University of Utah, Salt Lake City
3Department of Neurology, University of Maryland, Baltimore
4Department of Neurology, Beth Israel Medical Center, New York, New York
5Department of Neurology, West Virginia University, Morgantown
JAMA Neurol. 2013;70(10):1302-1304. doi:10.1001/jamaneurol.2013.443.
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Importance  A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (ALS) is described.

Observations  Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS. However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has been reported in the literature. We describe a 47-year-old woman with an 11-year history of ataxia and her paternal uncle with ALS who were evaluated at Columbia University Medical Center since July 2006. Both our patient with ataxia and her uncle with ALS have full pathological CAG repeat expansions of ATXN2.

Conclusions and Relevance  The diverse clinical phenotypes of ATXN2 CAG expansions and their coexistence in a single family are highlighted. A clinician should consider the diagnosis of spinocerebellar ataxia type 2 when encountering a patient with ataxia and a family history of ALS.

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Family Pedigree

ALS indicates amyotrophic lateral sclerosis; DM, diabetes mellitus; MI, myocardial infarction; SCA2, spinocerebellar ataxia type 2.

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